Genetic and Metabolic Disease in Children

Part of paid clinical trials in Dallas, Texas.

Sponsor
University of Texas Southwestern Medical Center
Study ID
NCT02650622
Status
Recruiting
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Conditions

  • Genetic Diseases
  • Metabolic Diseases

Eligibility Criteria

Sex
ALL
Age
1 Day - N/A
Healthy Volunteers
Not accepted

Interventions

  • Skin Biopsy — PROCEDURE
    Skin biopsy will only be performed on the proband children in the cohort 3. A small piece of skin (less than 1/8'') will be removed using a local anesthetic cream and a punch, which will then be used for culture of skin cells and other laboratory tests on metabolic function.

Study Details

This is a prospective, non-randomized, non-blinded observational study. The overarching goal is to discover new disease-associated genes in children, while establishing a specific focus on disorders where molecular characterization is most likely to lead to novel therapies. This study will merge detailed phenotypic characterization of patients presenting to the Pediatric Genetics and Metabolism Division in the Department of Pediatrics/Children's Medical Center at Dallas and collaborating clinics with Next-Generation sequencing techniques to identify disease-producing mutations. The primary objective of the study is to identify novel pathogenic mutations in children with rare Mendelian disorders. A secondary objective of the study is to establish normative ranges of a large number of metabolites from healthy newborns and older children.

Key Dates

Start date
Jun 30, 2015
Status verified
Jun 2024
Primary completion
May 31, 2030
Completion
May 31, 2030

Study Design

Enrollment
1,550 participants (estimated)

Arms

  • Arm: Cohort 1-Newborns aged 1-2 days
    No intervention will be applied specifically for this cohort. Blood samples will be collected from this cohort by piggybacking the state-mandated newborn screening test.
  • Arm: Cohort 2-Children aged 0-18 years
    No intervention will be applied specifically for this cohort. Blood samples will be collected from this cohort by piggybacking the blood draw of patient's standard of care.
  • Arm: Cohort 3-Diseased childrens and families
    Blood samples will be collected from this cohort by piggybacking the blood draw of patient's standard of care. Skin biopsy will be performed on the proband children with the agreement from parents or guardians.

Primary Outcome Measure

Perform metabolomic profiling and exome sequencing in children with presumed genetic and metabolic diseases [ Time Frame: 3-4 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Children's Medical Center at DallasDallasTexas75390
Donnice Michel
[email protected]
214-456-6148
Ralph J DeBerardinis, MD, PhD (PRINCIPAL_INVESTIGATOR)

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